ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.1560C>A (p.Thr520=) (rs267607677)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087291 SCV000762266 benign Charcot-Marie-Tooth disease type 2E 2019-12-31 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057121 SCV000088234 not provided not provided no assertion provided not provided

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